G7706A

# **General Information**

| **Position** | **7706** | **Variant** | **m.7706G\>A** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **A41T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Benign | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.7706G\>A** variant in MT\-CO2 has been reported in 1 pedigree. To date, 5 carriers have been reported. Reported mutation loads ranged from 16% to 91%, with a median of 87% overall; affected carriers showed mutation loads from 87% to 91%, with a median of 90%; unaffected carriers showed mutation loads from 16% to 72%, with a median of 60%. In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (72%) and muscle (54%) than in single fibers (16%). The main clinical manifestations among affected carriers included alpers\-Huttenlocher\-like progressive cerebrohepatic disease, down syndrome, ataxia, brain death, cardiac arrest, cardiomyopathy, diabetes, exercise intolerance, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7706 | m.7706G\>A |[ G7706A\-F1](https://mitofam.com/doc/1650/) | Finland | Alpers\-Huttenlocher\-like progressive cerebrohepatic disease | 3 | 1 | 2003 | [12612282](https://pubmed.ncbi.nlm.nih.gov/12612282/) |  |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-I1 | Uninf | F | Y | Y | D | 6 | 87% | 90% | / | 87%(heart); 90%(kidney); 91%(liver); 91%(brain); 88%(muscle clone) | Alpers\-Huttenlocher\-like progressive cerebrohepatic disease; failure to thrive, cardiomyopathy, hepatomegaly/fatty liver, psychomotor delay, ataxia, tremor, mental retardation, muscle weakness/exercise intolerance, lactic acidosis, cardiac arrest/brain death |  |
| 2 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-II1 | Fam | F | N | N | A | ND | 72% | 54\+/\-16% (single fibers) | / | / | Healthy/asymptomatic |  |
| 3 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-I2 | Uninf | F | N | N | A | ND | 66% | / | / | / | Healthy/asymptomatic |  |
| 4 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-II2 | Fam | F | N | Y | ND | ND | / | / | / | / | Down syndrome; diabetes; hypothyroidism |  |
| 5 | 7706 | m.7706G\>A | G7706A\-F1 | G7706A\-F1\-II3 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).